A1 Refereed original research article in a scientific journal
Novel Genetic Risk Variants Associated with Oral Tongue Squamous Cell Carcinoma
Authors: Nikkila, Rayan; Mäkitie, Antti; Joensuu, Heikki; Markkanen, Saara; Elenius, Klaus; Monni, Outi; Palotie, Aarno; Saarentaus, Elmo; FinnGen; Salo, Tuula; Bizaki-Vallaskangas, Argyro
Publisher: SPRINGER
Publishing place: NEW YORK
Publication year: 2025
Journal: Head and Neck Pathology
Journal name in source: HEAD & NECK PATHOLOGY
Journal acronym: HEAD NECK PATHOL
Article number: 45
Volume: 19
Issue: 1
Number of pages: 11
ISSN: 1936-055X
eISSN: 1936-0568
DOI: https://doi.org/10.1007/s12105-025-01784-0
Web address : https://doi.org/10.1007/s12105-025-01784-0
Self-archived copy’s web address: https://research.utu.fi/converis/portal/detail/Publication/491757714
Purpose
Limited data from genome-wide association studies (GWAS) focusing on oral tongue squamous cell carcinoma (OTSCC) are available. The present study was conducted to explore genetic associations for OTSCC.
Methods
A GWAS on 376 cases of OTSCC was conducted using the FinnGen Data Freeze-12 dataset. The case-cohort included 205 males and 171 females. Cases with malignancies involving the base of the tongue or lingual tonsil were excluded from the case-cohort. Individuals with no recorded history of malignancy were used as controls (n = 407,067). A Phenome-wide association study (PheWAS) was performed for the lead variants to assess their co-associations with other cancers.
Results
GWAS analysis identified three genome-wide significant loci associated with OTSCC (p < 5 x 10-8), located at 5p15.33 (rs27067 near gene LINC01511), 10q24 (rs1007771191 near RPS3AP36), and 20p12.3 (rs1438070080 near PLCB1), respectively. PheWAS showed associations of rs27067 mainly with prostate cancer (OR = 1.06, p = 5.41 x 10-7), and seborrheic keratosis (OR = 1.11, p = 1.51 x 10-11). A co-directional effect with melanoma was also observed (OR = 0.93, p = 6.24 x 10-5).
Conclusion
The GWAS detected two novel genetic associations with OTSCC. Further research is needed to identify the genes at these loci that contribute to the molecular pathogenesis of OTSCC.
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Funding information in the publication:
Open access funding provided by Tampere University (including Tampere University Hospital). This work was supported by the Sigrid Jusélius Foundation, Finska Läkaresällskapet, the State Research Funding for the Helsinki University Hospital.
